A Case of Growth Hormone and Gonadotropin Deficiency Associated with Unilateral Anophthalmia, Microphallus, Cryptorchidism, and Mental Retardation.

Abstract

We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth hormone and gonadotropin deficiency, attributed to hypothalamic dysfunction. Magnetic resonance imaging scan of the head showed a hypoplastic pituitary gland, decreased high intensity signals in the pituitary posterior lobe, absence of the left eye, and a hypoplastic left optic nerve with no abnormality of the pituitary stalk, corpus callosum, or septum pellucidum. Although not completely consistent with the features of septo-optic dysplasia (SOD), his condition was considered within the spectrum of SOD. Despite similarities to the Hesx1 knockout mouse, a model of human SOD, mutation analyses revealed no mutations or polymorphisms in coding regions of any exons or intron-exon boundaries of the HESX1 gene. Further genetic studies of this patient may improve understanding of molecular mechanisms involved in pituitary development.

An unusual ocular manifestation in Fanconi anemia: Congenital glaucoma

“…Although we cannot entirely exclude the possibility of a coincidental occurrence, it may be reasonable to assume that severe growth hormone deficiency in the proband might be involved in development of CG. In medical literature are a remarkable number of reports stating that growth hormone is needed for normal eye development and that, in cases of growth hormone deficiency, a variety of dysgenesis in the eyes may develop [4][5][6][7]. An FA patient with growth hormone deficiency in whom various ocular developmental abnormalities are displayed has been reported as well [8].…”

Bilateral anophthalmia with septo-optic dysplasia

“…When bilateral, anophthalmia has a high rate of associayed central nervous system abnormalities,[4] including septo-optic dysplasia, corpus callosum dysgenesis and pituitary anomalies. [5] Congenital anophthalmia associated with septo-optic dysplasia is a rare entity and not many cases are reported in English literature. [45]…”

“…[5] Congenital anophthalmia associated with septo-optic dysplasia is a rare entity and not many cases are reported in English literature. [45]…”